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Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
Authors:Rai-Hseng Hsu  Wuh-Liang Hwu  Ming Chen  I-Fang Chung  Steven Shinn-Forng Peng  Chen-Yang Chen  Wei-Chung Cheng  Yin-Hsiu Chien  Ni-Chung Lee
Affiliation:1. Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan;2. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan;3. Department of Pediatrics, Taipei Medical University Hospital, Taipei, Taiwan;4. Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;5. Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;6. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan;7. Institute of BioMedical Informatics, National Yang-Ming University, Taipei, Taiwan;8. Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan;9. Research Center for Tumor Medical Science, China Medical University, Taichung, 40402, Taiwan;10. Graduate Institute of Cancer Biology, China Medical University, Taichung, 40402, Taiwan
Abstract:
Keywords:Corresponding author. Department of Medical Genetics and Pediatrics   National Taiwan University Hospital   Taipei 10041   Taiwan. Fax: +886 2 23314518.
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